ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003842949 SCV004641608 pathogenic Ataxia-telangiectasia syndrome 2023-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1133*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32068069). For these reasons, this variant has been classified as Pathogenic.

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